AHI1 [The Human Chemical-Genetic Interaction Map Project]

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======= AHI1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: AHI1
  * **<color #00a2e8>Official Name</color>**: Abelson helper integration site 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=54806|54806]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q8N157|Q8N157]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=AHI1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20AHI1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/608894|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**: N/A

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|SH3 1|
|SH3 2|
|WD40|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|pronephric nephron morphogenesis|
|pronephric duct development|
|pronephric nephron tubule morphogenesis|
|positive regulation of polarized epithelial cell differentiation|
|pronephric duct morphogenesis|
|Kupffers vesicle development|
|pronephric nephron tubule development|
|regulation of polarized epithelial cell differentiation|
|pronephric nephron development|
|pronephros morphogenesis|
|cloaca development|
|specification of axis polarity|
|pronephros development|
|photoreceptor cell outer segment organization|
|nephric duct morphogenesis|
|left/right axis specification|
|MKS complex|
|otic vesicle development|
|nephric duct development|
|left/right pattern formation|
|retina layer formation|
|positive regulation of receptor internalization|
|non-motile cilium|
|positive regulation of morphogenesis of an epithelium|
|morphogenesis of a polarized epithelium|
|photoreceptor cell development|
|digestive tract morphogenesis|
|retina morphogenesis in camera-type eye|
|positive regulation of receptor-mediated endocytosis|
|regulation of receptor internalization|
|photoreceptor cell differentiation|
|neural retina development|
|positive regulation of epithelial cell differentiation|
|heart looping|
|adherens junction|
|nephron tubule morphogenesis|
|embryonic heart tube morphogenesis|
|determination of heart left/right asymmetry|
|nephron epithelium morphogenesis|
|nephron morphogenesis|
|renal tubule morphogenesis|
|regulation of behavior|
|embryonic heart tube development|
|nephron tubule development|
|renal tubule development|
|kidney morphogenesis|
|axis specification|
|ciliary basal body-plasma membrane docking|
|nephron epithelium development|
|positive regulation of endocytosis|
|regulation of receptor-mediated endocytosis|
|camera-type eye morphogenesis|
|determination of left/right symmetry|
|determination of bilateral symmetry|
|specification of symmetry|
|nephron development|
|kidney epithelium development|
|digestive tract development|
|ciliary basal body|
|retina development in camera-type eye|
|centriole|
|regulation of epithelial cell differentiation|
|digestive system development|
|eye morphogenesis|
|hindbrain development|
|organelle localization by membrane tethering|
|cell-cell junction|
|membrane docking|
|regulation of morphogenesis of an epithelium|
|inner ear development|
|cilium|
|regulation of endocytosis|
|ear development|
|heart morphogenesis|
|sensory organ morphogenesis|
|regulation of animal organ morphogenesis|
|kidney development|
|renal system development|
|embryonic organ morphogenesis|
|epithelial tube morphogenesis|
|camera-type eye development|
|urogenital system development|
|regionalization|
|cilium assembly|
|eye development|
|visual system development|
|sensory system development|
|cilium organization|
|morphogenesis of an epithelium|
|embryonic organ development|
|pattern specification process|
|plasma membrane bounded cell projection assembly|
|cell projection assembly|
|centrosome|
|transmembrane receptor protein tyrosine kinase signaling pathway|
|heart development|
|sensory organ development|
|regulation of vesicle-mediated transport|
|tissue morphogenesis|
|embryonic morphogenesis|
|organelle localization|
|tube morphogenesis|
|enzyme linked receptor protein signaling pathway|
|brain development|
|organelle assembly|
|head development|
|neuron development|
|tube development|
|circulatory system development|
|negative regulation of apoptotic process|
|anatomical structure formation involved in morphogenesis|
|negative regulation of programmed cell death|
|animal organ morphogenesis|
|positive regulation of cell differentiation|
|embryo development|
|central nervous system development|
|positive regulation of transport|
|negative regulation of cell death|
|neuron differentiation|
|regulation of anatomical structure morphogenesis|
|identical protein binding|
|epithelium development|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|positive regulation of cellular component organization|
|positive regulation of transcription by RNA polymerase II|
|positive regulation of developmental process|
|generation of neurons|
|positive regulation of transcription, DNA-templated|
|regulation of apoptotic process|
|regulation of programmed cell death|
|cellular protein localization|
|cellular macromolecule localization|
|neurogenesis|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|cell development|
|regulation of cell death|
|positive regulation of RNA metabolic process|
|tissue development|
|regulation of cell differentiation|
|regulation of transport|
|positive regulation of nucleobase-containing compound metabolic process|
|positive regulation of macromolecule biosynthetic process|
|vesicle-mediated transport|
|positive regulation of cellular biosynthetic process|
|positive regulation of gene expression|
|positive regulation of biosynthetic process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp24|Nocodazole 0.2μM R00 exp24]]|-1.97|
|[[:results:exp1|5-Fluorouracil 2μM R00 exp1]]|-1.81|
|[[:results:exp317|Geldanamycin 0.015 to 0.05μM on day4 R07 exp317]]|-1.78|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 18319
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.29 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='AHI1 Expression in NALM6 Cells: 6.29'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>